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. 2012 Aug 10;91(2):337–342. doi: 10.1016/j.ajhg.2012.06.003

Figure 3.

Figure 3

Mutation Analysis

(A) Sequence analysis of POC1A reveals a homozygous base substitution at cDNA position 512 (red arrow) in all affected individuals (lower panel). Healthy family members were found to be heterozygous carriers of the mutation (middle panel). The wild-type sequence is given for comparison (upper panel).

(B) The mutation in POC1A is predicted to alter a highly conserved amino acid residue as indicated by conservation analysis made with the ConSurf Server. The L171 residue is indicated by a black arrow.